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Galloway-Mowat syndrome 1
ICD-10 Codes
Related ICD-10:
Description
Galloway-Mowat Syndrome: A Rare Genetic Disorder
Galloway-Mowat syndrome is a rare genetic disorder that affects various aspects of an individual's development and physical health. The condition is characterized by a combination of physical and developmental abnormalities, which can vary in severity and impact.
- Physical Abnormalities: Individuals with Galloway-Mowat syndrome may experience microcephaly (small head size), hiatal hernia, and other skeletal and facial abnormalities [1][2].
- Developmental Delays: The condition is also associated with developmental delays, including delayed speech and language skills, as well as cognitive impairments [3][4].
- Renal and Neurological Issues: Galloway-Mowat syndrome can lead to early-onset nephrotic syndrome (a kidney disorder) and central nervous system abnormalities, such as gyral abnormalities in the brain [5][6].
It's essential to note that each individual with Galloway-Mowat syndrome may experience a unique set of symptoms, making diagnosis and management challenging. However, with proper medical care and support, individuals with this condition can lead fulfilling lives.
References: [1] - Context result 1 [2] - Context result 5 [3] - Context result 2 [4] - Context result 6 [5] - Context result 8 [6] - Context result 7
Additional Characteristics
- delayed speech and language skills
- cognitive impairments
- microcephaly (small head size)
- hiatal hernia
- skeletal and facial abnormalities
- early-onset nephrotic syndrome
- central nervous system abnormalities (gyral abnormalities in the brain)
Signs and Symptoms
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities [3]. The signs and symptoms of this condition can vary from person to person but often include:
- Neurological abnormalities: These can range from mild to severe and may include seizures, muscle spasms, and abnormal movements (dystonia) [1].
- Developmental delay: Individuals with Galloway-Mowat syndrome often experience significant delays in reaching developmental milestones, such as sitting, standing, or walking [3].
- Progressive microcephaly: This refers to a condition where the head circumference is smaller than average and continues to shrink over time [4].
- Hiatal hernia: A rare feature of Galloway-Mowat syndrome, hiatal hernia occurs when part of the stomach bulges up into the chest cavity through an opening in the diaphragm [5].
- Optic nerve atrophy: This can lead to vision problems and blindness in severe cases [6].
- Movement disorders: These may include symptoms such as tremors, rigidity, or difficulty with coordination and balance [7].
- Seizures: Seizures are a common feature of Galloway-Mowat syndrome and can range from mild to severe [8].
It's essential to note that each individual with Galloway-Mowat syndrome may experience a unique combination of these symptoms, and the severity can vary greatly from person to person.
References: [1] May 9, 2016 [3] [4] [5] [6] by Y Chen · 2023 · Cited by 5 [7] [8]
Additional Symptoms
- Seizures
- Movement disorders
- Neurological abnormalities
- Developmental delay
- Hiatal hernia
- Progressive microcephaly
- Optic nerve atrophy
Diagnostic Tests
Diagnostic Tests for Galloway-Mowat Syndrome Type 1
Galloway-Mowat syndrome type 1, also known as WDR73-related Galloway-Mowat syndrome, is a rare genetic disorder caused by mutations in the WDR73 gene. Diagnostic tests are essential to confirm the diagnosis of this condition.
Specialized Laboratory Tests
Several specialized laboratory tests can help diagnose Galloway-Mowat syndrome type 1:
- Genetic testing: This involves analyzing DNA samples from patients and their family members to identify mutations in the WDR73 gene [4][6].
- Sequence analysis: This test examines the entire coding region of the WDR73 gene using bi-directional Sanger sequence analysis [14].
Imaging Techniques
Imaging techniques can also aid in diagnosing Galloway-Mowat syndrome type 1:
- Fetal ultrafast MRI: This imaging technique has been shown to be useful in determining the extent of central nervous system involvement in fetuses affected with Galloway-Mowat syndrome [9].
Clinical Evaluation
A thorough clinical evaluation, including characteristic physical findings and specialized laboratory tests, is necessary for diagnosing Galloway-Mowat syndrome type 1. This may involve a team of specialists, including:
- Genetics: To analyze DNA samples and identify mutations in the WDR73 gene.
- Nephrology: To evaluate kidney function and diagnose nephrotic syndrome.
- Neurology: To assess central nervous system involvement.
Diagnostic Teams
A diagnostic team for Galloway-Mowat syndrome may include:
- Genetics
- Nephrology
- Neurology
It's essential to note that a diagnosis of Galloway-Mowat syndrome type 1 should only be made by a qualified healthcare professional after thorough evaluation and testing.
References: [4] Candidates for this test are patients with symptoms suggestive of Galloway-Mowat syndrome (GAMOS). [6] This test provides full coverage of all coding exons of the WDR73 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions. [9] by CP Chen · 2011 · Cited by 11 — Fetal ultrafast MRI has been shown to be a useful tool to determine the extent of central nervous system involvement in fetuses affected with Galloway-Mowat syndrome. [14] Clinical Molecular Genetics test for Galloway-Mowat syndrome and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Institute of Human Genetics.
Additional Diagnostic Tests
- Imaging techniques
- Genetic testing
- Sequence analysis
- Genetics
- Fetal ultrafast MRI
- Nephrology
- Neurology
Treatment
Current Status of Drug Treatment for Galloway-Mowat Syndrome
Unfortunately, there is no specific treatment available for Galloway-Mowat syndrome, including drug therapy (4). However, some treatments may be used to manage certain symptoms.
- Epilepsy: While there is no cure for epilepsy associated with Galloway-Mowat syndrome, anticonvulsant medications may be prescribed to control seizures (2).
- Hypothyroidism: Levothyroxine tablets have been used to treat hypothyroidism in some cases (5).
- Kidney issues: Kidney problems can be treated with dialysis and/or medications, such as immunosuppressive agents, although their effectiveness is unclear (10).
It's essential to note that the nephrotic syndrome associated with Galloway-Mowat syndrome does not respond to either steroid or immunosuppressive therapy (2). Therefore, treatment options are limited, and a multidisciplinary approach may be necessary to manage the various symptoms of this complex condition.
References: (4) - Drug therapy: At present, no confirmed cases of GAMOS use immunosuppressive agents when the kidney phenotype appears. However, with the ... (5) - by Y Chen · 2023 · Cited by 5 — After the child was admitted to the hospital, the examination was completed, and levothyroxine tablets were taken orally to treat hypothyroidism ... (10) - Jan 15, 2024 — Kidney issues can be treated with dialysis (process of removing toxins from the blood), and/or medications. Symptoms like seizures can also ...
Recommended Medications
- immunosuppressive agents
- levothyroxine tablets
- anticonvulsant
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in Galloway-Mowat Syndrome
Differential diagnosis refers to the process of ruling out other possible conditions that may present with similar symptoms, in order to arrive at a correct diagnosis. In the case of Galloway-Mowat syndrome, there are several differential diagnoses that need to be considered.
Key Differential Diagnoses:
- Pierson Syndrome: This is a rare genetic disorder characterized by nephrotic syndrome, microcephaly, and other developmental abnormalities.
- ARHGDIA Mutations: These mutations can lead to a range of symptoms, including nephrotic syndrome, microcephaly, and central nervous system anomalies.
- Coenzyme Q10 Deficiency: This is a rare genetic disorder that can cause a range of symptoms, including nephrotic syndrome, microcephaly, and other developmental abnormalities.
Other Considerations:
- Genetic Heterogeneity: Galloway-Mowat syndrome is a genetically heterogeneous condition, meaning that it can be caused by mutations in multiple different genes.
- Clinical Evaluation: A thorough clinical evaluation, including physical examination, laboratory tests, and imaging studies, is essential for ruling out other possible conditions and arriving at a correct diagnosis.
References:
- [4] Galloway-Mowat syndrome (GAMOS) is a rare genetic disease that has these typical clinical manifestations, such as microcephaly, central nervous system abnormalities, and early-onset hormone-resistant nephrotic syndrome (steroid-resistant nephrotic syndrome, SRNS).
- [14] Galloway Mowat syndrome (GMS) is characterized by microcephaly with various central nervous system anomalies and early-onset nephrotic syndrome. Other additional findings may include hiatal hernia.
- [6] October 10, 2024 - Galloway–Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly, and early-onset nephrotic syndrome.
Additional Differential Diagnoses
- nephrotic syndrome type 15
- Pierson syndrome
- ARHGDIA Mutations
- coenzyme Q10 deficiency disease
Additional Information
- relatedICD
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- Galloway-Mowat syndrome 1
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- 2015-09-17T16:00:31Z
- oboInOwl#id
- DOID:0060364
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- MIM:251300
- IAO_0000115
- A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25.
- oboInOwl#hasExactSynonym
- SCAR5
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- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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